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Physiology · Reproduction: primary testicular failure
Sample itemA tall 24-year-old man with small firm testes, gynaecomastia and azoospermia has a 47,XXY karyotype and a low serum testosterone. Which hormonal pattern is expected?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
C. Low testosterone with raised LH and FSH from loss of negative feedback
In Klinefelter syndrome the seminiferous tubules and Leydig cells are damaged, so testosterone and inhibin B are low. The anterior pituitary is intact and, released from feedback, secretes more LH and FSH, giving hypergonadotropic hypogonadism. Low testosterone with relatively high oestradiol also explains the gynaecomastia.
Option by option
A. Low testosterone with low LH and FSH from pituitary failure
Low gonadotrophins with low testosterone is hypogonadotropic hypogonadism, as in Kallmann syndrome.
B. Normal testosterone with raised LH and low FSH
Normal testosterone with a low FSH does not match tubular failure, where FSH is raised.
C. Low testosterone with raised LH and FSH from loss of negative feedback (correct)
Testicular failure removes testosterone and inhibin feedback and so raises both gonadotrophins.
D. High testosterone with suppressed LH and FSH
High testosterone with suppressed gonadotrophins is typical of an androgen-secreting tumour or exogenous androgen use.
Source note: Original NextPrep sample item — pending expert review. This item is original practice material awaiting independent expert review, so confirm important facts in a standard textbook.
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